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Fusion Protein:ITGAV-SMAD2 |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: ITGAV-SMAD2 | FusionPDB ID: 40495 | FusionGDB2.0 ID: 40495 | Hgene | Tgene | Gene symbol | ITGAV | SMAD2 | Gene ID | 3685 | 4087 |
| Gene name | integrin subunit alpha V | SMAD family member 2 | |
| Synonyms | CD51|MSK8|VNRA|VTNR | JV18|JV18-1|MADH2|MADR2|hMAD-2|hSMAD2 | |
| Cytomap | 2q32.1 | 18q21.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | integrin alpha-Vantigen identified by monoclonal antibody L230integrin alphaVbeta3integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)vitronectin receptor subunit alpha | mothers against decapentaplegic homolog 2MAD homolog 2SMAD, mothers against DPP homolog 2Sma- and Mad-related protein 2mother against DPP homolog 2 | |
| Modification date | 20200313 | 20200322 | |
| UniProtAcc | P06756 | . | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000261023, ENST00000374907, ENST00000433736, ENST00000474571, | ENST00000587353, ENST00000262160, ENST00000356825, ENST00000402690, ENST00000586040, ENST00000591214, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 11 X 9 X 8=792 | 12 X 9 X 5=540 |
| # samples | 13 | 12 | |
| ** MAII score | log2(13/792*10)=-2.60698880705116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(12/540*10)=-2.16992500144231 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: ITGAV [Title/Abstract] AND SMAD2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | ITGAV(187490314)-SMAD2(45377698), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | ITGAV-SMAD2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. ITGAV-SMAD2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. ITGAV-SMAD2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. ITGAV-SMAD2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. | ||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | ITGAV | GO:0007155 | cell adhesion | 10218736 |
| Hgene | ITGAV | GO:0008284 | positive regulation of cell proliferation | 19578119 |
| Hgene | ITGAV | GO:0033627 | cell adhesion mediated by integrin | 12807887|17158881 |
| Hgene | ITGAV | GO:0034446 | substrate adhesion-dependent cell spreading | 24658351 |
| Hgene | ITGAV | GO:0045785 | positive regulation of cell adhesion | 10708943 |
| Hgene | ITGAV | GO:0050764 | regulation of phagocytosis | 10570297 |
| Hgene | ITGAV | GO:0070588 | calcium ion transmembrane transport | 18395422 |
| Hgene | ITGAV | GO:1901388 | regulation of transforming growth factor beta activation | 22278742 |
| Hgene | ITGAV | GO:2000536 | negative regulation of entry of bacterium into host cell | 10570297 |
| Tgene | SMAD2 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 8752209|9389648|9732876|18548003 |
| Tgene | SMAD2 | GO:0007182 | common-partner SMAD protein phosphorylation | 16806156 |
| Tgene | SMAD2 | GO:0007183 | SMAD protein complex assembly | 9111321 |
| Tgene | SMAD2 | GO:0045893 | positive regulation of transcription, DNA-templated | 9311995|9389648|9732876 |
| Tgene | SMAD2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 9389648 |
| Tgene | SMAD2 | GO:0070723 | response to cholesterol | 17878231 |
| Fusion gene breakpoints across ITGAV (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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| Fusion gene breakpoints across SMAD2 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
| Fusion gene information from FusionGDB2.0. |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | STAD | TCGA-BR-A4QI-01A | ITGAV | chr2 | 187490314 | + | SMAD2 | chr18 | 45377698 | - |
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Fusion ORF Analysis |
| Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| ENST00000261023 | ITGAV | chr2 | 187490314 | + | ENST00000262160 | SMAD2 | chr18 | 45377698 | - | 11747 | 797 | 49 | 1470 | 473 |
| ENST00000261023 | ITGAV | chr2 | 187490314 | + | ENST00000402690 | SMAD2 | chr18 | 45377698 | - | 11747 | 797 | 49 | 1470 | 473 |
| ENST00000261023 | ITGAV | chr2 | 187490314 | + | ENST00000356825 | SMAD2 | chr18 | 45377698 | - | 10203 | 797 | 49 | 1470 | 473 |
| ENST00000261023 | ITGAV | chr2 | 187490314 | + | ENST00000586040 | SMAD2 | chr18 | 45377698 | - | 2073 | 797 | 49 | 1470 | 473 |
| ENST00000261023 | ITGAV | chr2 | 187490314 | + | ENST00000591214 | SMAD2 | chr18 | 45377698 | - | 1775 | 797 | 49 | 1452 | 467 |
| ENST00000374907 | ITGAV | chr2 | 187490314 | + | ENST00000262160 | SMAD2 | chr18 | 45377698 | - | 11732 | 782 | 34 | 1455 | 473 |
| ENST00000374907 | ITGAV | chr2 | 187490314 | + | ENST00000402690 | SMAD2 | chr18 | 45377698 | - | 11732 | 782 | 34 | 1455 | 473 |
| ENST00000374907 | ITGAV | chr2 | 187490314 | + | ENST00000356825 | SMAD2 | chr18 | 45377698 | - | 10188 | 782 | 34 | 1455 | 473 |
| ENST00000374907 | ITGAV | chr2 | 187490314 | + | ENST00000586040 | SMAD2 | chr18 | 45377698 | - | 2058 | 782 | 34 | 1455 | 473 |
| ENST00000374907 | ITGAV | chr2 | 187490314 | + | ENST00000591214 | SMAD2 | chr18 | 45377698 | - | 1760 | 782 | 34 | 1437 | 467 |
| ENST00000433736 | ITGAV | chr2 | 187490314 | + | ENST00000262160 | SMAD2 | chr18 | 45377698 | - | 11465 | 515 | 130 | 1188 | 352 |
| ENST00000433736 | ITGAV | chr2 | 187490314 | + | ENST00000402690 | SMAD2 | chr18 | 45377698 | - | 11465 | 515 | 130 | 1188 | 352 |
| ENST00000433736 | ITGAV | chr2 | 187490314 | + | ENST00000356825 | SMAD2 | chr18 | 45377698 | - | 9921 | 515 | 130 | 1188 | 352 |
| ENST00000433736 | ITGAV | chr2 | 187490314 | + | ENST00000586040 | SMAD2 | chr18 | 45377698 | - | 1791 | 515 | 130 | 1188 | 352 |
| ENST00000433736 | ITGAV | chr2 | 187490314 | + | ENST00000591214 | SMAD2 | chr18 | 45377698 | - | 1493 | 515 | 130 | 1170 | 346 |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
| ENST00000261023 | ENST00000262160 | ITGAV | chr2 | 187490314 | + | SMAD2 | chr18 | 45377698 | - | 0.001171628 | 0.99882835 |
| ENST00000261023 | ENST00000402690 | ITGAV | chr2 | 187490314 | + | SMAD2 | chr18 | 45377698 | - | 0.001171628 | 0.99882835 |
| ENST00000261023 | ENST00000356825 | ITGAV | chr2 | 187490314 | + | SMAD2 | chr18 | 45377698 | - | 0.001173371 | 0.99882656 |
| ENST00000261023 | ENST00000586040 | ITGAV | chr2 | 187490314 | + | SMAD2 | chr18 | 45377698 | - | 0.005449603 | 0.9945504 |
| ENST00000261023 | ENST00000591214 | ITGAV | chr2 | 187490314 | + | SMAD2 | chr18 | 45377698 | - | 0.003202333 | 0.99679774 |
| ENST00000374907 | ENST00000262160 | ITGAV | chr2 | 187490314 | + | SMAD2 | chr18 | 45377698 | - | 0.001168466 | 0.99883157 |
| ENST00000374907 | ENST00000402690 | ITGAV | chr2 | 187490314 | + | SMAD2 | chr18 | 45377698 | - | 0.001168466 | 0.99883157 |
| ENST00000374907 | ENST00000356825 | ITGAV | chr2 | 187490314 | + | SMAD2 | chr18 | 45377698 | - | 0.001170056 | 0.9988299 |
| ENST00000374907 | ENST00000586040 | ITGAV | chr2 | 187490314 | + | SMAD2 | chr18 | 45377698 | - | 0.005239456 | 0.9947606 |
| ENST00000374907 | ENST00000591214 | ITGAV | chr2 | 187490314 | + | SMAD2 | chr18 | 45377698 | - | 0.003078743 | 0.9969213 |
| ENST00000433736 | ENST00000262160 | ITGAV | chr2 | 187490314 | + | SMAD2 | chr18 | 45377698 | - | 0.000298568 | 0.99970144 |
| ENST00000433736 | ENST00000402690 | ITGAV | chr2 | 187490314 | + | SMAD2 | chr18 | 45377698 | - | 0.000298568 | 0.99970144 |
| ENST00000433736 | ENST00000356825 | ITGAV | chr2 | 187490314 | + | SMAD2 | chr18 | 45377698 | - | 0.000309527 | 0.99969053 |
| ENST00000433736 | ENST00000586040 | ITGAV | chr2 | 187490314 | + | SMAD2 | chr18 | 45377698 | - | 0.000669363 | 0.99933064 |
| ENST00000433736 | ENST00000591214 | ITGAV | chr2 | 187490314 | + | SMAD2 | chr18 | 45377698 | - | 0.000694315 | 0.9993057 |
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Fusion Amino Acid Sequences |
| For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >40495_40495_1_ITGAV-SMAD2_ITGAV_chr2_187490314_ENST00000261023_SMAD2_chr18_45377698_ENST00000262160_length(amino acids)=473AA_BP=250 MRCCPRPARSAPLVPGGRSEAQPSCLPRSCPGLAEKRAAGKFGRAQAAGRGHWAPRWGGGRWLPLPAWRPARTSAMAFPPRRRLRLGPRG LPLLLSGLLLPLCRAFNLDVDSPAEYSGPEGSYFGFAVDFFVPSASSRMFLLVGAPKANTTQPGIVEGGQVLKCDWSSTRRCQPIEFDAT GNRDYAKDDPLEFKSHQWFGASVRSKQDKILACAPLYHWRTEMKQEREPVGTCFLQDGTKTVEYAPCRSRSPAELSPTTLSPVNHSLDLQ PVTYSEPAFWCSIAYYELNQRVGETFHASQPSLTVDGFTDPSNSERFCLGLLSNVNRNATVEMTRRHIGRGVRLYYIGGEVFAECLSDSA IFVQSPNCNQRYGWHPATVCKIPPGCNLKIFNNQEFAALLAQSVNQGFEAVYQLTRMCTIRMSFVKGWGAEYRRQTVTSTPCWIELHLNG -------------------------------------------------------------- >40495_40495_2_ITGAV-SMAD2_ITGAV_chr2_187490314_ENST00000261023_SMAD2_chr18_45377698_ENST00000356825_length(amino acids)=473AA_BP=250 MRCCPRPARSAPLVPGGRSEAQPSCLPRSCPGLAEKRAAGKFGRAQAAGRGHWAPRWGGGRWLPLPAWRPARTSAMAFPPRRRLRLGPRG LPLLLSGLLLPLCRAFNLDVDSPAEYSGPEGSYFGFAVDFFVPSASSRMFLLVGAPKANTTQPGIVEGGQVLKCDWSSTRRCQPIEFDAT GNRDYAKDDPLEFKSHQWFGASVRSKQDKILACAPLYHWRTEMKQEREPVGTCFLQDGTKTVEYAPCRSRSPAELSPTTLSPVNHSLDLQ PVTYSEPAFWCSIAYYELNQRVGETFHASQPSLTVDGFTDPSNSERFCLGLLSNVNRNATVEMTRRHIGRGVRLYYIGGEVFAECLSDSA IFVQSPNCNQRYGWHPATVCKIPPGCNLKIFNNQEFAALLAQSVNQGFEAVYQLTRMCTIRMSFVKGWGAEYRRQTVTSTPCWIELHLNG -------------------------------------------------------------- >40495_40495_3_ITGAV-SMAD2_ITGAV_chr2_187490314_ENST00000261023_SMAD2_chr18_45377698_ENST00000402690_length(amino acids)=473AA_BP=250 MRCCPRPARSAPLVPGGRSEAQPSCLPRSCPGLAEKRAAGKFGRAQAAGRGHWAPRWGGGRWLPLPAWRPARTSAMAFPPRRRLRLGPRG LPLLLSGLLLPLCRAFNLDVDSPAEYSGPEGSYFGFAVDFFVPSASSRMFLLVGAPKANTTQPGIVEGGQVLKCDWSSTRRCQPIEFDAT GNRDYAKDDPLEFKSHQWFGASVRSKQDKILACAPLYHWRTEMKQEREPVGTCFLQDGTKTVEYAPCRSRSPAELSPTTLSPVNHSLDLQ PVTYSEPAFWCSIAYYELNQRVGETFHASQPSLTVDGFTDPSNSERFCLGLLSNVNRNATVEMTRRHIGRGVRLYYIGGEVFAECLSDSA IFVQSPNCNQRYGWHPATVCKIPPGCNLKIFNNQEFAALLAQSVNQGFEAVYQLTRMCTIRMSFVKGWGAEYRRQTVTSTPCWIELHLNG -------------------------------------------------------------- >40495_40495_4_ITGAV-SMAD2_ITGAV_chr2_187490314_ENST00000261023_SMAD2_chr18_45377698_ENST00000586040_length(amino acids)=473AA_BP=250 MRCCPRPARSAPLVPGGRSEAQPSCLPRSCPGLAEKRAAGKFGRAQAAGRGHWAPRWGGGRWLPLPAWRPARTSAMAFPPRRRLRLGPRG LPLLLSGLLLPLCRAFNLDVDSPAEYSGPEGSYFGFAVDFFVPSASSRMFLLVGAPKANTTQPGIVEGGQVLKCDWSSTRRCQPIEFDAT GNRDYAKDDPLEFKSHQWFGASVRSKQDKILACAPLYHWRTEMKQEREPVGTCFLQDGTKTVEYAPCRSRSPAELSPTTLSPVNHSLDLQ PVTYSEPAFWCSIAYYELNQRVGETFHASQPSLTVDGFTDPSNSERFCLGLLSNVNRNATVEMTRRHIGRGVRLYYIGGEVFAECLSDSA IFVQSPNCNQRYGWHPATVCKIPPGCNLKIFNNQEFAALLAQSVNQGFEAVYQLTRMCTIRMSFVKGWGAEYRRQTVTSTPCWIELHLNG -------------------------------------------------------------- >40495_40495_5_ITGAV-SMAD2_ITGAV_chr2_187490314_ENST00000261023_SMAD2_chr18_45377698_ENST00000591214_length(amino acids)=467AA_BP=250 MRCCPRPARSAPLVPGGRSEAQPSCLPRSCPGLAEKRAAGKFGRAQAAGRGHWAPRWGGGRWLPLPAWRPARTSAMAFPPRRRLRLGPRG LPLLLSGLLLPLCRAFNLDVDSPAEYSGPEGSYFGFAVDFFVPSASSRMFLLVGAPKANTTQPGIVEGGQVLKCDWSSTRRCQPIEFDAT GNRDYAKDDPLEFKSHQWFGASVRSKQDKILACAPLYHWRTEMKQEREPVGTCFLQDGTKTVEYAPCRSRSPAELSPTTLSPVNHSLDLQ PVTYSEPAFWCSIAYYELNQRVGETFHASQPSLTVDGFTDPSNSERFCLGLLSNVNRNATVEMTRRHIGRGVRLYYIGGEVFAECLSDSA IFVQSPNCNQRYGWHPATVCKIPPGCNLKIFNNQEFAALLAQSVNQGFEAVYQLTRMCTIRMSFVKGWGAEYRYEIHIWFLNFHSVIMFH -------------------------------------------------------------- >40495_40495_6_ITGAV-SMAD2_ITGAV_chr2_187490314_ENST00000374907_SMAD2_chr18_45377698_ENST00000262160_length(amino acids)=473AA_BP=250 MRCCPRPARSAPLVPGGRSEAQPSCLPRSCPGLAEKRAAGKFGRAQAAGRGHWAPRWGGGRWLPLPAWRPARTSAMAFPPRRRLRLGPRG LPLLLSGLLLPLCRAFNLDVDSPAEYSGPEGSYFGFAVDFFVPSASSRMFLLVGAPKANTTQPGIVEGGQVLKCDWSSTRRCQPIEFDAT GNRDYAKDDPLEFKSHQWFGASVRSKQDKILACAPLYHWRTEMKQEREPVGTCFLQDGTKTVEYAPCRSRSPAELSPTTLSPVNHSLDLQ PVTYSEPAFWCSIAYYELNQRVGETFHASQPSLTVDGFTDPSNSERFCLGLLSNVNRNATVEMTRRHIGRGVRLYYIGGEVFAECLSDSA IFVQSPNCNQRYGWHPATVCKIPPGCNLKIFNNQEFAALLAQSVNQGFEAVYQLTRMCTIRMSFVKGWGAEYRRQTVTSTPCWIELHLNG -------------------------------------------------------------- >40495_40495_7_ITGAV-SMAD2_ITGAV_chr2_187490314_ENST00000374907_SMAD2_chr18_45377698_ENST00000356825_length(amino acids)=473AA_BP=250 MRCCPRPARSAPLVPGGRSEAQPSCLPRSCPGLAEKRAAGKFGRAQAAGRGHWAPRWGGGRWLPLPAWRPARTSAMAFPPRRRLRLGPRG LPLLLSGLLLPLCRAFNLDVDSPAEYSGPEGSYFGFAVDFFVPSASSRMFLLVGAPKANTTQPGIVEGGQVLKCDWSSTRRCQPIEFDAT GNRDYAKDDPLEFKSHQWFGASVRSKQDKILACAPLYHWRTEMKQEREPVGTCFLQDGTKTVEYAPCRSRSPAELSPTTLSPVNHSLDLQ PVTYSEPAFWCSIAYYELNQRVGETFHASQPSLTVDGFTDPSNSERFCLGLLSNVNRNATVEMTRRHIGRGVRLYYIGGEVFAECLSDSA IFVQSPNCNQRYGWHPATVCKIPPGCNLKIFNNQEFAALLAQSVNQGFEAVYQLTRMCTIRMSFVKGWGAEYRRQTVTSTPCWIELHLNG -------------------------------------------------------------- >40495_40495_8_ITGAV-SMAD2_ITGAV_chr2_187490314_ENST00000374907_SMAD2_chr18_45377698_ENST00000402690_length(amino acids)=473AA_BP=250 MRCCPRPARSAPLVPGGRSEAQPSCLPRSCPGLAEKRAAGKFGRAQAAGRGHWAPRWGGGRWLPLPAWRPARTSAMAFPPRRRLRLGPRG LPLLLSGLLLPLCRAFNLDVDSPAEYSGPEGSYFGFAVDFFVPSASSRMFLLVGAPKANTTQPGIVEGGQVLKCDWSSTRRCQPIEFDAT GNRDYAKDDPLEFKSHQWFGASVRSKQDKILACAPLYHWRTEMKQEREPVGTCFLQDGTKTVEYAPCRSRSPAELSPTTLSPVNHSLDLQ PVTYSEPAFWCSIAYYELNQRVGETFHASQPSLTVDGFTDPSNSERFCLGLLSNVNRNATVEMTRRHIGRGVRLYYIGGEVFAECLSDSA IFVQSPNCNQRYGWHPATVCKIPPGCNLKIFNNQEFAALLAQSVNQGFEAVYQLTRMCTIRMSFVKGWGAEYRRQTVTSTPCWIELHLNG -------------------------------------------------------------- >40495_40495_9_ITGAV-SMAD2_ITGAV_chr2_187490314_ENST00000374907_SMAD2_chr18_45377698_ENST00000586040_length(amino acids)=473AA_BP=250 MRCCPRPARSAPLVPGGRSEAQPSCLPRSCPGLAEKRAAGKFGRAQAAGRGHWAPRWGGGRWLPLPAWRPARTSAMAFPPRRRLRLGPRG LPLLLSGLLLPLCRAFNLDVDSPAEYSGPEGSYFGFAVDFFVPSASSRMFLLVGAPKANTTQPGIVEGGQVLKCDWSSTRRCQPIEFDAT GNRDYAKDDPLEFKSHQWFGASVRSKQDKILACAPLYHWRTEMKQEREPVGTCFLQDGTKTVEYAPCRSRSPAELSPTTLSPVNHSLDLQ PVTYSEPAFWCSIAYYELNQRVGETFHASQPSLTVDGFTDPSNSERFCLGLLSNVNRNATVEMTRRHIGRGVRLYYIGGEVFAECLSDSA IFVQSPNCNQRYGWHPATVCKIPPGCNLKIFNNQEFAALLAQSVNQGFEAVYQLTRMCTIRMSFVKGWGAEYRRQTVTSTPCWIELHLNG -------------------------------------------------------------- >40495_40495_10_ITGAV-SMAD2_ITGAV_chr2_187490314_ENST00000374907_SMAD2_chr18_45377698_ENST00000591214_length(amino acids)=467AA_BP=250 MRCCPRPARSAPLVPGGRSEAQPSCLPRSCPGLAEKRAAGKFGRAQAAGRGHWAPRWGGGRWLPLPAWRPARTSAMAFPPRRRLRLGPRG LPLLLSGLLLPLCRAFNLDVDSPAEYSGPEGSYFGFAVDFFVPSASSRMFLLVGAPKANTTQPGIVEGGQVLKCDWSSTRRCQPIEFDAT GNRDYAKDDPLEFKSHQWFGASVRSKQDKILACAPLYHWRTEMKQEREPVGTCFLQDGTKTVEYAPCRSRSPAELSPTTLSPVNHSLDLQ PVTYSEPAFWCSIAYYELNQRVGETFHASQPSLTVDGFTDPSNSERFCLGLLSNVNRNATVEMTRRHIGRGVRLYYIGGEVFAECLSDSA IFVQSPNCNQRYGWHPATVCKIPPGCNLKIFNNQEFAALLAQSVNQGFEAVYQLTRMCTIRMSFVKGWGAEYRYEIHIWFLNFHSVIMFH -------------------------------------------------------------- >40495_40495_11_ITGAV-SMAD2_ITGAV_chr2_187490314_ENST00000433736_SMAD2_chr18_45377698_ENST00000262160_length(amino acids)=352AA_BP=129 MLLGTLLLILYILMLCRMFLLVGAPKANTTQPGIVEGGQVLKCDWSSTRRCQPIEFDATGNRDYAKDDPLEFKSHQWFGASVRSKQDKIL ACAPLYHWRTEMKQEREPVGTCFLQDGTKTVEYAPCRSRSPAELSPTTLSPVNHSLDLQPVTYSEPAFWCSIAYYELNQRVGETFHASQP SLTVDGFTDPSNSERFCLGLLSNVNRNATVEMTRRHIGRGVRLYYIGGEVFAECLSDSAIFVQSPNCNQRYGWHPATVCKIPPGCNLKIF -------------------------------------------------------------- >40495_40495_12_ITGAV-SMAD2_ITGAV_chr2_187490314_ENST00000433736_SMAD2_chr18_45377698_ENST00000356825_length(amino acids)=352AA_BP=129 MLLGTLLLILYILMLCRMFLLVGAPKANTTQPGIVEGGQVLKCDWSSTRRCQPIEFDATGNRDYAKDDPLEFKSHQWFGASVRSKQDKIL ACAPLYHWRTEMKQEREPVGTCFLQDGTKTVEYAPCRSRSPAELSPTTLSPVNHSLDLQPVTYSEPAFWCSIAYYELNQRVGETFHASQP SLTVDGFTDPSNSERFCLGLLSNVNRNATVEMTRRHIGRGVRLYYIGGEVFAECLSDSAIFVQSPNCNQRYGWHPATVCKIPPGCNLKIF -------------------------------------------------------------- >40495_40495_13_ITGAV-SMAD2_ITGAV_chr2_187490314_ENST00000433736_SMAD2_chr18_45377698_ENST00000402690_length(amino acids)=352AA_BP=129 MLLGTLLLILYILMLCRMFLLVGAPKANTTQPGIVEGGQVLKCDWSSTRRCQPIEFDATGNRDYAKDDPLEFKSHQWFGASVRSKQDKIL ACAPLYHWRTEMKQEREPVGTCFLQDGTKTVEYAPCRSRSPAELSPTTLSPVNHSLDLQPVTYSEPAFWCSIAYYELNQRVGETFHASQP SLTVDGFTDPSNSERFCLGLLSNVNRNATVEMTRRHIGRGVRLYYIGGEVFAECLSDSAIFVQSPNCNQRYGWHPATVCKIPPGCNLKIF -------------------------------------------------------------- >40495_40495_14_ITGAV-SMAD2_ITGAV_chr2_187490314_ENST00000433736_SMAD2_chr18_45377698_ENST00000586040_length(amino acids)=352AA_BP=129 MLLGTLLLILYILMLCRMFLLVGAPKANTTQPGIVEGGQVLKCDWSSTRRCQPIEFDATGNRDYAKDDPLEFKSHQWFGASVRSKQDKIL ACAPLYHWRTEMKQEREPVGTCFLQDGTKTVEYAPCRSRSPAELSPTTLSPVNHSLDLQPVTYSEPAFWCSIAYYELNQRVGETFHASQP SLTVDGFTDPSNSERFCLGLLSNVNRNATVEMTRRHIGRGVRLYYIGGEVFAECLSDSAIFVQSPNCNQRYGWHPATVCKIPPGCNLKIF -------------------------------------------------------------- >40495_40495_15_ITGAV-SMAD2_ITGAV_chr2_187490314_ENST00000433736_SMAD2_chr18_45377698_ENST00000591214_length(amino acids)=346AA_BP=129 MLLGTLLLILYILMLCRMFLLVGAPKANTTQPGIVEGGQVLKCDWSSTRRCQPIEFDATGNRDYAKDDPLEFKSHQWFGASVRSKQDKIL ACAPLYHWRTEMKQEREPVGTCFLQDGTKTVEYAPCRSRSPAELSPTTLSPVNHSLDLQPVTYSEPAFWCSIAYYELNQRVGETFHASQP SLTVDGFTDPSNSERFCLGLLSNVNRNATVEMTRRHIGRGVRLYYIGGEVFAECLSDSAIFVQSPNCNQRYGWHPATVCKIPPGCNLKIF -------------------------------------------------------------- |
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Fusion Protein Functional Features |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr2:187490314/chr18:45377698) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ITGAV | . |
| FUNCTION: The alpha-V (ITGAV) integrins are receptors for vitronectin, cytotactin, fibronectin, fibrinogen, laminin, matrix metalloproteinase-2, osteopontin, osteomodulin, prothrombin, thrombospondin and vWF. They recognize the sequence R-G-D in a wide array of ligands. ITGAV:ITGB3 binds to fractalkine (CX3CL1) and may act as its coreceptor in CX3CR1-dependent fractalkine signaling (PubMed:23125415). ITGAV:ITGB3 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling (PubMed:20682778). ITGAV:ITGB3 binds to FGF1 and this binding is essential for FGF1 signaling (PubMed:18441324). ITGAV:ITGB3 binds to FGF2 and this binding is essential for FGF2 signaling (PubMed:28302677). ITGAV:ITGB3 binds to IGF1 and this binding is essential for IGF1 signaling (PubMed:19578119). ITGAV:ITGB3 binds to IGF2 and this binding is essential for IGF2 signaling (PubMed:28873464). ITGAV:ITGB3 binds to IL1B and this binding is essential for IL1B signaling (PubMed:29030430). ITGAV:ITGB3 binds to PLA2G2A via a site (site 2) which is distinct from the classical ligand-binding site (site 1) and this induces integrin conformational changes and enhanced ligand binding to site 1 (PubMed:18635536, PubMed:25398877). ITGAV:ITGB3 and ITGAV:ITGB6 act as a receptor for fibrillin-1 (FBN1) and mediate R-G-D-dependent cell adhesion to FBN1 (PubMed:12807887, PubMed:17158881). Integrin alpha-V/beta-6 or alpha-V/beta-8 (ITGAV:ITGB6 or ITGAV:ITGB8) mediates R-G-D-dependent release of transforming growth factor beta-1 (TGF-beta-1) from regulatory Latency-associated peptide (LAP), thereby playing a key role in TGF-beta-1 activation (PubMed:15184403, PubMed:22278742, PubMed:28117447). ITGAV:ITGB3 act as a receptor for CD40LG (PubMed:31331973). {ECO:0000269|PubMed:12807887, ECO:0000269|PubMed:15184403, ECO:0000269|PubMed:17158881, ECO:0000269|PubMed:18441324, ECO:0000269|PubMed:18635536, ECO:0000269|PubMed:19578119, ECO:0000269|PubMed:20682778, ECO:0000269|PubMed:22278742, ECO:0000269|PubMed:23125415, ECO:0000269|PubMed:25398877, ECO:0000269|PubMed:28117447, ECO:0000269|PubMed:28302677, ECO:0000269|PubMed:28873464, ECO:0000269|PubMed:29030430, ECO:0000269|PubMed:31331973}.; FUNCTION: (Microbial infection) Integrin ITGAV:ITGB5 acts as a receptor for Adenovirus type C. {ECO:0000269|PubMed:20615244}.; FUNCTION: (Microbial infection) Integrin ITGAV:ITGB5 and ITGAV:ITGB3 act as receptors for Coxsackievirus A9 and B1. {ECO:0000269|PubMed:15194773, ECO:0000269|PubMed:7519807, ECO:0000269|PubMed:9426447}.; FUNCTION: (Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for Herpes virus 8/HHV-8. {ECO:0000269|PubMed:18045938}.; FUNCTION: (Microbial infection) Integrin ITGAV:ITGB6 acts as a receptor for herpes simplex 1/HHV-1. {ECO:0000269|PubMed:24367260}.; FUNCTION: (Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for Human parechovirus 1. {ECO:0000269|PubMed:11160695}.; FUNCTION: (Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for West nile virus. {ECO:0000269|PubMed:23658209}.; FUNCTION: (Microbial infection) In case of HIV-1 infection, the interaction with extracellular viral Tat protein seems to enhance angiogenesis in Kaposi's sarcoma lesions. {ECO:0000269|PubMed:10397733}. | FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at * Minus value of BPloci means that the break pointn is located before the CDS. |
| - Retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| Hgene | ITGAV | chr2:187490314 | chr18:45377698 | ENST00000261023 | + | 4 | 30 | 109_170 | 174.33333333333334 | 1049.0 | Repeat | FG-GAP 2 |
| Hgene | ITGAV | chr2:187490314 | chr18:45377698 | ENST00000261023 | + | 4 | 30 | 32_98 | 174.33333333333334 | 1049.0 | Repeat | FG-GAP 1 |
| Hgene | ITGAV | chr2:187490314 | chr18:45377698 | ENST00000374907 | + | 4 | 28 | 109_170 | 174.33333333333334 | 1013.0 | Repeat | FG-GAP 2 |
| Hgene | ITGAV | chr2:187490314 | chr18:45377698 | ENST00000374907 | + | 4 | 28 | 32_98 | 174.33333333333334 | 1013.0 | Repeat | FG-GAP 1 |
| Hgene | ITGAV | chr2:187490314 | chr18:45377698 | ENST00000433736 | + | 4 | 30 | 32_98 | 128.33333333333334 | 1003.0 | Repeat | FG-GAP 1 |
| Tgene | SMAD2 | chr2:187490314 | chr18:45377698 | ENST00000262160 | 5 | 11 | 274_467 | 243.33333333333334 | 468.0 | Domain | MH2 | |
| Tgene | SMAD2 | chr2:187490314 | chr18:45377698 | ENST00000356825 | 4 | 10 | 274_467 | 213.33333333333334 | 438.0 | Domain | MH2 | |
| Tgene | SMAD2 | chr2:187490314 | chr18:45377698 | ENST00000402690 | 5 | 11 | 274_467 | 243.33333333333334 | 468.0 | Domain | MH2 | |
| Tgene | SMAD2 | chr2:187490314 | chr18:45377698 | ENST00000586040 | 3 | 9 | 274_467 | 213.33333333333334 | 438.0 | Domain | MH2 |
| - Not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| Hgene | ITGAV | chr2:187490314 | chr18:45377698 | ENST00000261023 | + | 4 | 30 | 260_268 | 174.33333333333334 | 1049.0 | Calcium binding | Ontology_term=ECO:0000255,ECO:0000269 |
| Hgene | ITGAV | chr2:187490314 | chr18:45377698 | ENST00000261023 | + | 4 | 30 | 314_322 | 174.33333333333334 | 1049.0 | Calcium binding | Ontology_term=ECO:0000255,ECO:0000269 |
| Hgene | ITGAV | chr2:187490314 | chr18:45377698 | ENST00000261023 | + | 4 | 30 | 379_387 | 174.33333333333334 | 1049.0 | Calcium binding | Ontology_term=ECO:0000255,ECO:0000269 |
| Hgene | ITGAV | chr2:187490314 | chr18:45377698 | ENST00000261023 | + | 4 | 30 | 443_451 | 174.33333333333334 | 1049.0 | Calcium binding | Ontology_term=ECO:0000255,ECO:0000269 |
| Hgene | ITGAV | chr2:187490314 | chr18:45377698 | ENST00000374907 | + | 4 | 28 | 260_268 | 174.33333333333334 | 1013.0 | Calcium binding | Ontology_term=ECO:0000255,ECO:0000269 |
| Hgene | ITGAV | chr2:187490314 | chr18:45377698 | ENST00000374907 | + | 4 | 28 | 314_322 | 174.33333333333334 | 1013.0 | Calcium binding | Ontology_term=ECO:0000255,ECO:0000269 |
| Hgene | ITGAV | chr2:187490314 | chr18:45377698 | ENST00000374907 | + | 4 | 28 | 379_387 | 174.33333333333334 | 1013.0 | Calcium binding | Ontology_term=ECO:0000255,ECO:0000269 |
| Hgene | ITGAV | chr2:187490314 | chr18:45377698 | ENST00000374907 | + | 4 | 28 | 443_451 | 174.33333333333334 | 1013.0 | Calcium binding | Ontology_term=ECO:0000255,ECO:0000269 |
| Hgene | ITGAV | chr2:187490314 | chr18:45377698 | ENST00000433736 | + | 4 | 30 | 260_268 | 128.33333333333334 | 1003.0 | Calcium binding | Ontology_term=ECO:0000255,ECO:0000269 |
| Hgene | ITGAV | chr2:187490314 | chr18:45377698 | ENST00000433736 | + | 4 | 30 | 314_322 | 128.33333333333334 | 1003.0 | Calcium binding | Ontology_term=ECO:0000255,ECO:0000269 |
| Hgene | ITGAV | chr2:187490314 | chr18:45377698 | ENST00000433736 | + | 4 | 30 | 379_387 | 128.33333333333334 | 1003.0 | Calcium binding | Ontology_term=ECO:0000255,ECO:0000269 |
| Hgene | ITGAV | chr2:187490314 | chr18:45377698 | ENST00000433736 | + | 4 | 30 | 443_451 | 128.33333333333334 | 1003.0 | Calcium binding | Ontology_term=ECO:0000255,ECO:0000269 |
| Hgene | ITGAV | chr2:187490314 | chr18:45377698 | ENST00000261023 | + | 4 | 30 | 1019_1023 | 174.33333333333334 | 1049.0 | Motif | Note=GFFKR motif |
| Hgene | ITGAV | chr2:187490314 | chr18:45377698 | ENST00000374907 | + | 4 | 28 | 1019_1023 | 174.33333333333334 | 1013.0 | Motif | Note=GFFKR motif |
| Hgene | ITGAV | chr2:187490314 | chr18:45377698 | ENST00000433736 | + | 4 | 30 | 1019_1023 | 128.33333333333334 | 1003.0 | Motif | Note=GFFKR motif |
| Hgene | ITGAV | chr2:187490314 | chr18:45377698 | ENST00000261023 | + | 4 | 30 | 173_225 | 174.33333333333334 | 1049.0 | Repeat | FG-GAP 3 |
| Hgene | ITGAV | chr2:187490314 | chr18:45377698 | ENST00000261023 | + | 4 | 30 | 237_291 | 174.33333333333334 | 1049.0 | Repeat | FG-GAP 4 |
| Hgene | ITGAV | chr2:187490314 | chr18:45377698 | ENST00000261023 | + | 4 | 30 | 292_357 | 174.33333333333334 | 1049.0 | Repeat | FG-GAP 5 |
| Hgene | ITGAV | chr2:187490314 | chr18:45377698 | ENST00000261023 | + | 4 | 30 | 358_415 | 174.33333333333334 | 1049.0 | Repeat | FG-GAP 6 |
| Hgene | ITGAV | chr2:187490314 | chr18:45377698 | ENST00000261023 | + | 4 | 30 | 419_482 | 174.33333333333334 | 1049.0 | Repeat | FG-GAP 7 |
| Hgene | ITGAV | chr2:187490314 | chr18:45377698 | ENST00000374907 | + | 4 | 28 | 173_225 | 174.33333333333334 | 1013.0 | Repeat | FG-GAP 3 |
| Hgene | ITGAV | chr2:187490314 | chr18:45377698 | ENST00000374907 | + | 4 | 28 | 237_291 | 174.33333333333334 | 1013.0 | Repeat | FG-GAP 4 |
| Hgene | ITGAV | chr2:187490314 | chr18:45377698 | ENST00000374907 | + | 4 | 28 | 292_357 | 174.33333333333334 | 1013.0 | Repeat | FG-GAP 5 |
| Hgene | ITGAV | chr2:187490314 | chr18:45377698 | ENST00000374907 | + | 4 | 28 | 358_415 | 174.33333333333334 | 1013.0 | Repeat | FG-GAP 6 |
| Hgene | ITGAV | chr2:187490314 | chr18:45377698 | ENST00000374907 | + | 4 | 28 | 419_482 | 174.33333333333334 | 1013.0 | Repeat | FG-GAP 7 |
| Hgene | ITGAV | chr2:187490314 | chr18:45377698 | ENST00000433736 | + | 4 | 30 | 109_170 | 128.33333333333334 | 1003.0 | Repeat | FG-GAP 2 |
| Hgene | ITGAV | chr2:187490314 | chr18:45377698 | ENST00000433736 | + | 4 | 30 | 173_225 | 128.33333333333334 | 1003.0 | Repeat | FG-GAP 3 |
| Hgene | ITGAV | chr2:187490314 | chr18:45377698 | ENST00000433736 | + | 4 | 30 | 237_291 | 128.33333333333334 | 1003.0 | Repeat | FG-GAP 4 |
| Hgene | ITGAV | chr2:187490314 | chr18:45377698 | ENST00000433736 | + | 4 | 30 | 292_357 | 128.33333333333334 | 1003.0 | Repeat | FG-GAP 5 |
| Hgene | ITGAV | chr2:187490314 | chr18:45377698 | ENST00000433736 | + | 4 | 30 | 358_415 | 128.33333333333334 | 1003.0 | Repeat | FG-GAP 6 |
| Hgene | ITGAV | chr2:187490314 | chr18:45377698 | ENST00000433736 | + | 4 | 30 | 419_482 | 128.33333333333334 | 1003.0 | Repeat | FG-GAP 7 |
| Hgene | ITGAV | chr2:187490314 | chr18:45377698 | ENST00000261023 | + | 4 | 30 | 1017_1048 | 174.33333333333334 | 1049.0 | Topological domain | Cytoplasmic |
| Hgene | ITGAV | chr2:187490314 | chr18:45377698 | ENST00000261023 | + | 4 | 30 | 31_992 | 174.33333333333334 | 1049.0 | Topological domain | Extracellular |
| Hgene | ITGAV | chr2:187490314 | chr18:45377698 | ENST00000374907 | + | 4 | 28 | 1017_1048 | 174.33333333333334 | 1013.0 | Topological domain | Cytoplasmic |
| Hgene | ITGAV | chr2:187490314 | chr18:45377698 | ENST00000374907 | + | 4 | 28 | 31_992 | 174.33333333333334 | 1013.0 | Topological domain | Extracellular |
| Hgene | ITGAV | chr2:187490314 | chr18:45377698 | ENST00000433736 | + | 4 | 30 | 1017_1048 | 128.33333333333334 | 1003.0 | Topological domain | Cytoplasmic |
| Hgene | ITGAV | chr2:187490314 | chr18:45377698 | ENST00000433736 | + | 4 | 30 | 31_992 | 128.33333333333334 | 1003.0 | Topological domain | Extracellular |
| Hgene | ITGAV | chr2:187490314 | chr18:45377698 | ENST00000261023 | + | 4 | 30 | 993_1016 | 174.33333333333334 | 1049.0 | Transmembrane | Helical |
| Hgene | ITGAV | chr2:187490314 | chr18:45377698 | ENST00000374907 | + | 4 | 28 | 993_1016 | 174.33333333333334 | 1013.0 | Transmembrane | Helical |
| Hgene | ITGAV | chr2:187490314 | chr18:45377698 | ENST00000433736 | + | 4 | 30 | 993_1016 | 128.33333333333334 | 1003.0 | Transmembrane | Helical |
| Tgene | SMAD2 | chr2:187490314 | chr18:45377698 | ENST00000262160 | 5 | 11 | 10_176 | 243.33333333333334 | 468.0 | Domain | MH1 | |
| Tgene | SMAD2 | chr2:187490314 | chr18:45377698 | ENST00000356825 | 4 | 10 | 10_176 | 213.33333333333334 | 438.0 | Domain | MH1 | |
| Tgene | SMAD2 | chr2:187490314 | chr18:45377698 | ENST00000402690 | 5 | 11 | 10_176 | 243.33333333333334 | 468.0 | Domain | MH1 | |
| Tgene | SMAD2 | chr2:187490314 | chr18:45377698 | ENST00000586040 | 3 | 9 | 10_176 | 213.33333333333334 | 438.0 | Domain | MH1 |
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Fusion Protein-Protein Interaction |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in |
| Protein-protein interactors with each fusion partner protein in wild-type from validated records (BIOGRID-3.4.160) |
| Gene | PPI interactors |
| Protein-protein interactors based on sequence similarity (STRING) |
| Gene | STRING network |
| ITGAV | |
| SMAD2 |
| - Retained interactions in fusion protein (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost interactions due to fusion (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs to ITGAV-SMAD2 |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
Top |
Related Diseases to ITGAV-SMAD2 |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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